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- $Unique_ID{BRK03856}
- $Pretitle{}
- $Title{Hypothyroidism}
- $Subject{Hypothyroidism Myxedema Underactive Thyroid Graves Disease
- Hashimoto's Thyroiditis Pendred's Syndrome }
- $Volume{}
- $Log{}
-
- Copyright (C) 1988, 1989, 1990, 1992 National Organization for Rare
- Disorders, Inc.
-
- 616:
- Hypothyroidism
-
- ** IMPORTANT **
- It is possible that the main title of the article (Hypothyroidism) is not
- the name you expected. Please check the SYNONYM listing to find the
- alternate names and disorder subdivisions covered by this article.
-
- Synonyms
-
- Myxedema
- Underactive Thyroid
-
- Information on the following diseases can be found in the Related
- Disorders section of this report:
-
- Graves Disease
- Hashimoto's Thyroiditis
- Pendred's Syndrome
-
- General Discussion
-
- ** REMINDER **
- The information contained in the Rare Disease Database is provided for
- educational purposes only. It should not be used for diagnostic or treatment
- purposes. If you wish to obtain more information about this disorder, please
- contact your personal physician and/or the agencies listed in the "Resources"
- section of this report.
-
-
- Hypothyroidism may be a genetic or acquired condition that occurs alone
- or as a symptom of another illness. Major symptoms may include the
- development of an enlarged thyroid gland (goiter) in the neck. A dull facial
- expression, puffiness and swelling around the eyes, drooping eyelids and
- thinning hair, which is coarse and dry, may also occur. Intelligence may or
- may not be affected.
-
- Symptoms
-
- Symptoms of Hypothyroidism may result in extreme tiredness, enlargement of
- the thyroid gland, poor memory, dull-witted behavior and a change in
- personality. In some cases a psychosis ("myxedema madness") may develop.
- Yellowish discoloration of the skin may be seen in the hands and feet. The
- tongue can become enlarged (macroglossia) due to mucinous deposits. A
- collection of a high protein fluid around the heart may cause the heart to
- become enlarged. The lungs and abdominal spaces may also become enlarged due
- to fluid accumulation. Other signs of hypothyroidism include severe
- constipation, nerve compression in the hands and feet, a lower than normal
- body temperature (hypothermia) and anemia. Infertility in men and woman may
- also be caused by hypothyroidism as well as male impotence.
-
- Hypothyroidism in the newborn is characterized by a hoarse cry,
- constipation, prolonged jaundice, poor feeding, and umbilical hernias. Bone
- growth is slowed producing diagnostic findings on X-ray examination. Early
- diagnosis and treatment (less than six weeks) is critical in the newborn in
- order to prevent the development of mental retardation. Most states have
- newborn screening programs to facilitate early detection and treatment.
-
- Untreated childhood hypothyroidism is characterized by slowed growth,
- delay in the development of teeth, and mental retardation. As the child
- matures the stature may be unusually short. A rare complication of
- hypothyroidism is Myxedema coma, which occurs in colder climates as a result
- of lowered body temperature (hypothermia) in patients with a history of
- longstanding hypothyroidism. This can be a life-threatening consequence of
- the disease in the absence of appropriate treatment.
-
- Causes
-
- There may be several causes of hypothyroidism. One form of congenital
- hypothyroidism is inherited as an autosomal recessive trait. (Human traits
- including the classic genetic diseases, are the product of the interaction of
- two genes, one received from the father and one from the mother. In
- recessive disorders, the condition does not appear unless a person inherits
- the same defective gene for the same trait from each parent. If a person
- receives one normal gene and one gene for the disease, the person will be a
- carrier for the disease, but usually will show no symptoms. The risk of
- transmitting the disease to the children of a couple, both of whom are
- carriers for a recessive disorder, is twenty-five percent. Fifty percent of
- their children will be carriers, but healthy as described above. Twenty-five
- percent of their children will receive both normal genes, one from each
- parent, and will be genetically normal.)
-
- Hypothyroidism may also be caused by disorders of the hypothalamus or
- pituitary centers in the brain. Other causes may be disorders that affect
- control of the thyroid hormone. Hypothyroidism may also result from blockage
- in the metabolic process of transporting thyroid or iodine in the thyroid
- gland itself. Surgery or radiation to the thyroid gland may result in
- hypothyroidism. Drug therapy with propylthiouracil, methimazole, and iodides
- may result in insufficient levels of useable thyroid hormone. However, this
- condition usually abates after the drug therapy is stopped.
-
- Hypothyroidism may also be the result of an autoimmune disorder
- (Hashimoto's Thyroiditis). Autoimmune disorders are caused when the body's
- natural defenses against invading organisms (i.e. antibodies, lymphocytes,
- etc.), suddenly begin to attack healthy tissue.
-
- Affected Population
-
- Hypothyroidism affects females more often than males. In the congenital form
- it occurs once in every 3,000 births in the United States, and is not
- concentrated in any particular geographic location. It is, however, five
- times more common in white infants than in black infants. Other forms of
- hypothyroidism are more common, and may occur in any age group.
-
- Related Disorders
-
- Symptoms of the following disorders can be similar to those of
- hypothyroidism. Comparisons may be useful for a differential diagnosis:
-
- Graves' Disease is a rare disorder affecting the thyroid gland. It is
- thought to occur as a result of an imbalance in the endocrine system. This
- disorder causes increased thyroid secretion (hyperthyroidism), enlargement of
- the thyroid gland (goiters) and protrusion of the eyeballs. Swelling of the
- legs and eyes, extreme sensitivity to light, irregular heart beat, clubbing
- of the fingers, and the development of breasts in males (gynecomastia) may
- also occur. It may also cause heat intolerance, emotional instability,
- weight loss or hyperactivity. Symptoms may occur as a single incident and
- then go into remission, or recurrent attacks may occur. (For more
- information on this disorder, choose "Graves'" as your search term in the
- Rare Disease Database).
-
- Hashimoto's Thyroiditis or Lymphoid Thyroiditis is the most common cause
- of enlarged thyroid gland (goiter). It is believed to be an autoimmune
- disorder which can destroy the thyroid gland and produce below normal levels
- of thyroid hormone secretion (hypothyroidism). Some individuals have both
- Hashimoto's Disease and Graves' Disease at the same time. Hashimoto's
- Disease can occur at any age but is most common in the third to fifth decades
- of life, and is more common in women than men. It is initially characterized
- by an enlarged thyroid gland that is infiltrated with lymphocytes.
- Eventually, the thyroid may be completely destroyed. Agents which reduce
- antithyroid antibody formation are the treatments of choice. (For more
- information on thia disorder, choose "Hashimoto" as your saearch term in the
- Rare Disease Database.)
-
- Pendred's Syndrome is a type of familial goiter. Congenital nerve
- deafness occurs with goiter, due to defective binding of iodine in the
- thyroid. Afflicted individuals usually have a normally functioning thyroid
- gland (euthyroid).
-
- Therapies: Standard
-
- Administration of the synthetic thyroid hormone, levothyroxine is the
- treatment of choice for hypothyroidism. Other treatment includes the use of
- desiccated thyroid, thyroglobulin and triiodothyronine. Surgery to remove
- goiters or diseased thyroid tissue is also performed. If the use of drugs is
- responsible for the suppression of thyroid function, then the drugs may be
- discontinued. Genetic counseling is essential for families with the
- inherited form of this disease. Other treatment is symptomatic and
- supportive.
-
- The FDA has approved SmithKline Beecham's drug, Triostat (liothyronine
- sodium injection) for the treatment of myxedema coma and precoma. This drug
- is the synthetic injectable form of the thyroid hormone triliodothyronine, or
- T3.
-
- Therapies: Investigational
-
- Clinical trials are underway to study neuropsychiatric aspects of marginal
- Hypothyroidism. Interested persons may wish to contact:
-
- John J. Haggerty, Jr., M.D.
- Associate Profesor
- Dept. of Psychiatry
- University of NC, Chapel Hill
- Chapel Hill, NC 27599
- (919) 966-3147
-
- to see if further patients are needed for this research.
-
- This disease entry is based upon medical information available through
- February 1992. Since NORD's resources are limited, it is not possible to
- keep every entry in the Rare Disease Database completely current and
- accurate. Please check with the agencies listed in the Resources section for
- the most current information about this disorder.
-
- Resources
-
- For more information on Hypothyroidism, please contact:
-
- National Organization for Rare Disorders (NORD)
- P.O. Box 8923
- New Fairfield, CT 06812-1783
- (203) 746-6518
-
- Thyroid Foundation of America
- c/o Dr. Morris Wood
- Massachusetts General Hospital
- Boston, MA 02114
- (617) 726-2377
-
- American Thyroid Association
- Endocrine/Metabolic Service 7D
- Walter Reed Army Medical Center
- Washington, DC 20307
- 800-542-6687
-
- National Digestive Diseases Information Clearinghouse
- Box NDDIC
- Bethesda, MD 20892
- (301) 468-6344
-
- For genetic information and genetic counseling referrals:
-
- March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- (914) 428-7100
-
- Alliance of Genetic Support Groups
- 35 Wisconsin Circle, Suite 440
- Chevy Chase, MD 20815
- (800) 336-GENE
- (301) 652-5553
-
- References
-
- THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al.,
- eds.; McGraw Hill, 1983. Pp. 231-263.
-
- L-THYROXINE THERAPY INDUCES A FALL OF THYROID MICROSOMAL AND
- THYROGLOBULIN ANITBODIES IN IDIOPATHIC MYXEDEMA AND IN HYPOTHYROID, BUT NOT
- IN EUTHYROID HASHIMOTO'S THYROIDITIS. L. Chiovato, et al.; J Endocrinol
- Invest (August, 1986, issue, 9 (4)). Pp. 299-305.
-
- ABNORMAL TESTICULAR FUNCTION IN MEN WITH PRIMARY HYPOTHYROIDISM. J
- Wortsman, et al.; Am J Med, (February, 1987, issue 82 (2)). Pp. 207-212.
-
- HYPERPROLACTINEMIA, INFERTILITY, AND HYPOTHYROIDISM. A CASE REPORT AND
- LITERATURE REVIEW. J. H. Fish, et al.; Arch Intern Med (March, 1988, issue
- 148 (3)). Pp. 709-711.
-
- CONGENITAL HYPOTHYROIDISM, INCREASED RISK OF NEONATAL MORBIDITY RESULTS
- IN DELAYED TREATMENT. P. M. Fernhoff, et al.; Lancet (February, 1987, issue 1
- (8531)). Pp. 490-491.
-
- REPLACEMENT DOSE, METABOLISM, AND BIOAVAILABILITY OF LEVOTHYROXINE IN THE
- TREATMENT OF HYPOTHYROIDISM. ROLE OF TRIIODOTHYRONINE IN PITUITARY FEEDBACK
- IN HUMANS. L. H. Fish. et al.; N Engl J Med (March 26, 1987, issue 316 (13)).
- Pp. 764-770.
-
-